Canonical Allele Identifier: CA2336107520
Gene: COQ8B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40703792_40703793delinsGC , CM000681.2:g.40703792_40703793delinsGC GRCh38
NC_000019.9:g.41209697_41209698delinsGC , CM000681.1:g.41209697_41209698delinsGC GRCh37
NC_000019.8:g.45901537_45901538delinsGC NCBI36
NG_027800.1:g.18093_18094delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000324464.8:c.639_640delinsGC MANE Select ENSP00000315118.3:p.Val213=
ENST00000593724.2:n.393-171_393-170delinsGC
ENST00000594490.6:c.561_562delinsGC ENSP00000471310.2:p.Val187=
ENST00000594720.6:c.639_640delinsGC ENSP00000470876.2:p.Val213=
ENST00000596455.6:n.931_932delinsGC
ENST00000601967.6:c.639_640delinsGC ENSP00000470916.2:p.Val213=
ENST00000676555.1:c.639_640delinsGC ENSP00000503387.1:p.Val213=
ENST00000676578.1:c.*381_*382delinsGC ENSP00000504076.1:n.*381_*382delinsGC
ENST00000676960.1:n.764_765delinsGC
ENST00000676962.1:n.918_919delinsGC
ENST00000677018.1:c.639_640delinsGC ENSP00000503480.1:p.Val213=
ENST00000677039.1:n.694_695delinsGC
ENST00000677399.1:n.1081_1082delinsGC
ENST00000677496.1:c.312_313delinsGC ENSP00000504773.1:p.Val104=
ENST00000677517.1:c.312_313delinsGC ENSP00000503519.1:p.Val104=
ENST00000677633.1:c.*62_*63delinsGC ENSP00000503645.1:n.*62_*63delinsGC
ENST00000677800.1:c.*3743_*3744delinsGC ENSP00000503794.1:n.*3743_*3744delinsGC
ENST00000678057.1:c.*203_*204delinsGC ENSP00000503762.1:n.*203_*204delinsGC
ENST00000678119.1:n.833_834delinsGC
ENST00000678166.1:n.861-171_861-170delinsGC
ENST00000678312.1:n.976_977delinsGC
ENST00000678316.1:c.*62_*63delinsGC ENSP00000504112.1:n.*62_*63delinsGC
ENST00000678371.1:n.997_998delinsGC
ENST00000678404.1:c.639_640delinsGC ENSP00000503944.1:p.Val213=
ENST00000678419.1:c.639_640delinsGC ENSP00000504085.1:p.Val213=
ENST00000678433.1:n.999_1000delinsGC
ENST00000678467.1:c.639_640delinsGC ENSP00000504072.1:p.Val213=
ENST00000678569.1:c.639_640delinsGC ENSP00000504261.1:p.Val213=
ENST00000678961.1:n.822_823delinsGC
ENST00000679002.1:n.818_819delinsGC
ENST00000679012.1:c.195_196delinsGC ENSP00000504446.1:p.Val65=
ENST00000679070.1:c.*62_*63delinsGC ENSP00000503759.1:n.*62_*63delinsGC
ENST00000679130.1:c.639_640delinsGC ENSP00000504845.1:p.Val213=
ENST00000679315.1:c.*469_*470delinsGC ENSP00000503065.1:n.*469_*470delinsGC
ENST00000243583.10:c.516_517delinsGC ENSP00000243583.5:p.Val172=
ENST00000324464.7:c.639_640delinsGC ENSP00000315118.3:p.Val213=
ENST00000595254.5:c.312_313delinsGC ENSP00000470894.1:p.Val104=
ENST00000596455.5:n.759_760delinsGC
ENST00000599643.5:c.336-171_336-170delinsGC ENSP00000471192.1:n.336-171_336-170delinsGC
ENST00000601304.5:c.*413_*414delinsGC ENSP00000472519.1:n.*413_*414delinsGC
ENST00000601967.5:c.639_640delinsGC ENSP00000470916.1:p.Val213=
NM_001142555.2:c.516_517delinsGC NP_001136027.1:p.Val172=
NM_024876.3:c.639_640delinsGC NP_079152.3:p.Val213=
XM_005259270.3:c.801_802delinsGC XP_005259327.2:p.Val267=
XM_005259271.3:c.639_640delinsGC XP_005259328.1:p.Val213=
XM_005259272.3:c.639_640delinsGC XP_005259329.1:p.Val213=
XM_005259273.3:c.639_640delinsGC XP_005259330.1:p.Val213=
XM_006723392.2:c.639_640delinsGC XP_006723455.1:p.Val213=
XM_006723393.2:c.639_640delinsGC XP_006723456.1:p.Val213=
XM_011527334.1:c.639_640delinsGC XP_011525636.1:p.Val213=
XM_011527335.1:c.577-171_577-170delinsGC XP_011525637.1:n.577-171_577-170delinsGC
XM_011527336.1:c.669_670delinsGC XP_011525638.1:p.Val223=
XM_011527337.1:c.639_640delinsGC XP_011525639.1:p.Val213=
XM_011527338.1:c.639_640delinsGC XP_011525640.1:p.Val213=
NM_024876.4:c.639_640delinsGC MANE Select NP_079152.3:p.Val213=
NM_001142555.3:c.516_517delinsGC NP_001136027.1:p.Val172=